Transmembrane protein 53 craniotubular dysplasia (OMIM # 619727): The skeletal disease and consequent blindness of this new disorder.

Saved in:
Bibliographic Details
Title: Transmembrane protein 53 craniotubular dysplasia (OMIM # 619727): The skeletal disease and consequent blindness of this new disorder.
Authors: Whyte MP; Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children-St. Louis, St. Louis, MO 63110, USA; Division of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA. Electronic address: mwhyte@wustl.edu., Weinstein RS; Division of Endocrinology, Metabolic Bone Diseases, University of Arkansas for Medical Sciences, Little Rock, AR 72205, USA. Electronic address: WeinsteinRobertS@uams.edu., Phillips PH; Department of Ophthalmology, Jones Eye Institute, University of Arkansas for Medical Serivces, Arkansas Children's Hospital, Little Rock, AR 72205, USA. Electronic address: PhillipsPaulH@uams.edu., McAlister WH; Mallinckrodt Institute of Radiology at St. Louis Children's Hospital, Washington University School of Medicine, St. Louis, MO 63110, USA. Electronic address: mcalisterw@wustl.edu., Ramakrishnaiah RH; Department of Radiology, Arkansas Children's Hospital, Little Rock, AR 72205, USA. Electronic address: Raghuhr@uams.edu., Schaefer GB; Department of Ophthalmology, Jones Eye Institute, University of Arkansas for Medical Serivces, Arkansas Children's Hospital, Little Rock, AR 72205, USA. Electronic address: SchaeferGB@uams.edu., Cai R; Department of Ophthalmology, Jones Eye Institute, University of Arkansas for Medical Serivces, Arkansas Children's Hospital, Little Rock, AR 72205, USA., Hutchison MR; Department of Ophthalmology, Jones Eye Institute, University of Arkansas for Medical Serivces, Arkansas Children's Hospital, Little Rock, AR 72205, USA. Electronic address: MRHutchinson@salud.unm.edu., Duan S; Division of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA. Electronic address: sduan@wustl.edu., Gottesman GS; Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children-St. Louis, St. Louis, MO 63110, USA; Division of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA. Electronic address: gsgottesman@wustl.edu., Mumm S; Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children-St. Louis, St. Louis, MO 63110, USA; Division of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA. Electronic address: smumm@wustl.edu.
Source: Bone [Bone] 2024 Nov; Vol. 188, pp. 117218. Date of Electronic Publication: 2024 Jul 30.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Elsevier Science Country of Publication: United States NLM ID: 8504048 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2763 (Electronic) Linking ISSN: 18732763 NLM ISO Abbreviation: Bone Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1873-2763
DOI:10.1016/j.bone.2024.117218